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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

Fig. 3

Histological analysis reveals connective tissue abnormalities: a Skin biopsy showing considerably thickened epithelium, particularly near the hair follicles. Image taken at 220× magnification; scale bars = 10 μm. b Skin biopsy showing high density of collagen in the papillary dermis. Image taken at 19000× magnification; scale bars = 500 nm. c Skin biopsy showing elastin in the shallow and deep papillary dermis that is moth eaten and lacks associated micro-fibrils. Image taken at 50000× magnification; scale bars = 500 nm. d Skin biopsy showing macrophages adjacent to the capillaries. Image taken at 3500× magnification; scale bars = 2 μm. e Skin biopsy showing dimples at the cores of the elastin fibrils that seem to indicate a higher than normal density of elastin fibrils in the reticular dermis. Image taken at 3500× magnification; scale bars = 2 μm. f Skin biopsy showing collagen fibrils in the reticular dermis are abnormally small and uniform in diameter. Image taken at 29000× magnification; scale bars = 500 nm

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